April N Brady1, Bahig M Shehata, Paul M Fernhoff. 1. Department of Human Genetics, Division of Medical Genetics, Emory University, 2165 N. Decatur Road, Decatur, GA 30033, USA. nbrady@genetics.emory.edu
Abstract
OBJECTIVES: Mutations in the tafazzin (TAZ) gene at chromosomal locus Xq28 are responsible for Barth syndrome (BTHS), X-linked endocardial fibroelastosis (EFE), X-linked fatal infantile dilated cardiomyopathy (CMD3A), and familial isolated noncompaction of left ventricular myocardium (INVM). This evaluation was performed to determine if a known familial TAZ gene mutation might present with abnormal fetal cardiac pathology findings as early as the second trimester of pregnancy. METHODS: Prenatal diagnosis revealed that a male fetus was positive for a known familial arg94his TAZ gene mutation. An elective termination with subsequent fetal pathology examination was performed at 18 weeks' gestation. RESULTS: Fetal examination revealed cardiomegaly, EFE, and subendocardial vacuolization of the myocytes. CONCLUSION: Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks' gestation. To our knowledge, this case provides the earliest fetal pathologic description of a TAZ cardiomyopathy. Copyright (c) 2006 John Wiley & Sons, Ltd.
OBJECTIVES: Mutations in the tafazzin (TAZ) gene at chromosomal locus Xq28 are responsible for Barth syndrome (BTHS), X-linked endocardial fibroelastosis (EFE), X-linked fatal infantile dilated cardiomyopathy (CMD3A), and familial isolated noncompaction of left ventricular myocardium (INVM). This evaluation was performed to determine if a known familial TAZ gene mutation might present with abnormal fetal cardiac pathology findings as early as the second trimester of pregnancy. METHODS: Prenatal diagnosis revealed that a male fetus was positive for a known familial arg94his TAZ gene mutation. An elective termination with subsequent fetal pathology examination was performed at 18 weeks' gestation. RESULTS: Fetal examination revealed cardiomegaly, EFE, and subendocardial vacuolization of the myocytes. CONCLUSION: Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks' gestation. To our knowledge, this case provides the earliest fetal pathologic description of a TAZcardiomyopathy. Copyright (c) 2006 John Wiley & Sons, Ltd.
Authors: Charlotte Thiels; Martin Fleger; Martina Huemer; Richard J Rodenburg; Frederic M Vaz; Riekelt H Houtkooper; Tobias B Haack; Holger Prokisch; René G Feichtinger; Thomas Lücke; Johannes A Mayr; Saskia B Wortmann Journal: JIMD Rep Date: 2016-01-03
Authors: Colin G Steward; Sarah J Groves; Carolyn T Taylor; Melissa K Maisenbacher; Birgitta Versluys; Ruth A Newbury-Ecob; Hulya Ozsahin; Michaela K Damin; Valerie M Bowen; Katherine R McCurdy; Michael C Mackey; Audrey A Bolyard; David C Dale Journal: Curr Opin Hematol Date: 2019-01 Impact factor: 3.284
Authors: Yuxin Fan; Jon Steller; Iris L Gonzalez; Wim Kulik; Michelle Fox; Richard Chang; Brandy A Westerfield; Anjan S Batra; Raymond Yu Jeang Wang; Natalie M Gallant; Liana S Pena; Hu Wang; Taosheng Huang; Sunita Bhuta; Daniel J Penny; Edward R McCabe; Virginia E Kimonis Journal: JIMD Rep Date: 2013-04-19
Authors: C G Steward; R A Newbury-Ecob; R Hastings; S F Smithson; B Tsai-Goodman; O W Quarrell; W Kulik; R Wanders; M Pennock; M Williams; J L Cresswell; I L Gonzalez; P Brennan Journal: Prenat Diagn Date: 2010-10 Impact factor: 3.050
Authors: Sarah L N Clarke; Ann Bowron; Iris L Gonzalez; Sarah J Groves; Ruth Newbury-Ecob; Nicol Clayton; Robin P Martin; Beverly Tsai-Goodman; Vanessa Garratt; Michael Ashworth; Valerie M Bowen; Katherine R McCurdy; Michaela K Damin; Carolyn T Spencer; Matthew J Toth; Richard I Kelley; Colin G Steward Journal: Orphanet J Rare Dis Date: 2013-02-12 Impact factor: 4.123